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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Bilateral nanophthalmos and pigmentary retinal dystrophy-an unusual syndrome.

BACKGROUND: To report the clinical picture of the rare association of nanophthalmos and pigmentary retinal dystrophy and its cataract surgery outcome. METHODS: We report a case of a 60-year-old female who presented with bilateral slowly progressive visual loss. RESULTS: The patient presented with bilateral light perception visual acuity, exotropia, brunescent cataract hindering fundus examination and hypodontia. Ultrasonography revealed bilateral nanophthalmos. A visual-evoked potential was also performed preoperatively. Cataract surgery with +40D IOL implantation was uneventful. Postoperative fundus examination revealed pigmentary retinal dystrophy, confirmed by electrophysiologic tests. Glycosaminoglycan urinary excretion was normal. CONCLUSIONS: Congenital bilateral nanophthalmos may rarely be associated with pigmentary retinal dystrophy. We suggest thorough preoperative evaluation in nanophthalmic eyes for the exclusion of significant features concerning visual prognosis.[1]


  1. Bilateral nanophthalmos and pigmentary retinal dystrophy-an unusual syndrome. Proença, H., Castanheira-Dinis, A., Monteiro-Grillo, M. Graefes Arch. Clin. Exp. Ophthalmol. (2006) [Pubmed]
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